Linked Data
ClinVar Variation Id:
2143360
ClinVar RCV Id:
RCV003076683
dbSNP Id:
rs781410675
ExAC:
17:40696149 G / A
gnomAD v2:
17-40696149-G-A
gnomAD v3:
17-42544131-G-A
gnomAD v4:
17-42544131-G-A
COSMIC:
COSM5364068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544131G>A , CM000679.2:g.42544131G>A | GRCh38 |
| NC_000017.10:g.40696149G>A , CM000679.1:g.40696149G>A | GRCh37 |
| NC_000017.9:g.37949675G>A | NCBI36 |
| NG_011552.1:g.13199G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2125G>A MANE Select | ENSP00000225927.1:p.Val709Ile | |
| ENST00000225927.6:c.2125G>A | ENSP00000225927.1:p.Val709Ile | |
| ENST00000591587.1:c.1463G>A | ENSP00000467836.1:n.1463G>A | |
| NM_000263.3:c.2125G>A | NP_000254.2:p.Val709Ile | |
| XM_006721920.2:c.1294G>A | XP_006721983.1:p.Val432Ile | |
| XM_011524840.1:c.1126G>A | XP_011523142.1:p.Val376Ile | |
| XM_017024687.1:c.1294G>A | XP_016880176.1:p.Val432Ile | |
| XM_024450771.1:c.2182G>A | XP_024306539.1:p.Val728Ile | |
| XM_024450772.1:c.1126G>A | XP_024306540.1:p.Val376Ile | |
| NM_000263.4:c.2125G>A MANE Select | NP_000254.2:p.Val709Ile |